ARVC is an inherited genetic disorder caused by mutations in genes responsible for certain proteins that connect heart cells. It caused heart muscle tissue—usually in the right ventricle (lower chamber)—to break down, replacing it with scar tissue and fat. ARVC disrupts the heart’s normal electrical activity and causes heart arrhythmia (irregular heartbeat) in the ventricles. Arrhythmias are life threatening and can lead to sudden cardiac arrest and death, especially in young people and athletes who are otherwise healthy.
SymptomsARVC may not cause symptoms, especially in the early stages of the disease. In many people, the first signs are:
- Heart palpitations (fluttering or pounding in your chest)
- Sudden cardiac death (heart stoppage caused by arrhythmia), usually during strenuous activity
Diagnosis and TreatmentDiagnosing ARVC can be problematic because symptoms are often difficult to detect. If your medical or family history suggests that you may have ARVC, your physician will confirm a diagnosis with further tests, which may include:
- Standard electrocardiogram (ECG) to check for problems with your heartbeat
- Exercise ECG (or stress test) to detect heartbeat problems that may not appear on a standard ECG
- Event monitor to record your heart’s electrical activity over time to detect heart arrhythmia
- Diagnostic imaging, including Cardiovascular MRI and echocardiogram, to evaluate your heart’s structure for any abnormalities
- Electrophysiology (EP) study through cardiac catheterization to assess susceptibility to arrhythmia
- Genetic testing to look for defective genes associated with ARVC. If you or a family member are diagnosed with ARVC, it’s very important for other family members to be screened for the syndrome. We offer genetic testing for heart conditions.
- Medications such as beta blockers or anti-arrhythmic drugs to help regulate heart contractions
- Surgery to implant a defibrillator to correct dangerous heart arrhythmia with electric shocks
- Avoiding very strenuous activity
- Avoiding stimulants including caffeine, nicotine and certain decongestants